Associated Papers
Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
Merkuryeva ES et al.
Genes, 2024
Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease.
Gjaltema RA et al.
Critical Reviews in Biochemistry and Molecular Biology, 2017
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.
Velasco HM et al.
The Application of Clinical Genetics, 2017
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Umair M et al.
Journal of Human Genetics, 2016
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
Zhou P et al.
Plos One, 2014
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U et al.
Human Molecular Genetics, 2013
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
Setijowati ED et al.
European Journal of Medical Genetics, 2012
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
Shaheen R et al.
American Journal of Medical Genetics. Part A, 2011
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley BP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.
Tauseef U et al.
Journal of Ayub Medical College, Abbottabad : Jamc, 0
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